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The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03373-w
By:
- Parenti, Giancarlo;
- Fecarotta, Simona;
- Alagia, Marianna;
- Attaianese, Federica;
- Verde, Alessandra;
- Tarallo, Antonietta;
- Gragnaniello, Vincenza;
- Ziagaki, Athanasia;
- Guimaraes, Maria Jose';
- Aguiar, Patricio;
- Hahn, Andreas;
- Azevedo, Olga;
- Donati, Maria Alice;
- Kiec-Wilk, Beata;
- Scarpa, Maurizio;
- van der Beek, Nadine A. M. E.;
- Del Toro Riera, Mireja;
- Germain, Dominique P.;
- Huidekoper, Hidde;
- van den Hout, Johanna M. P.
Publication type:
Article
Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.
Published in:
2018
By:
- Ebbink, Berendine J.;
- Poelman, Esther;
- Aarsen, Femke K.;
- Plug, Iris;
- Régal, Luc;
- Muentjes, Carsten;
- van der Beek, Nadine A. M. E.;
- Lequin, Maarten H.;
- van der Ploeg, Ans T.;
- van den Hout, Johanna M. P.
Publication type:
journal article
Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review.
Published in:
Biomolecules (2218-273X), 2023, v. 13, n. 9, p. 1414, doi. 10.3390/biom13091414
By:
- Ditters, Imke A. M.;
- van Kooten, Harmke A.;
- van der Beek, Nadine A. M. E.;
- van der Ploeg, Ans T.;
- Huidekoper, Hidde H.;
- van den Hout, Johanna M. P.
Publication type:
Article
Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02715-4
By:
- Ditters, Imke A. M.;
- van der Beek, Nadine A. M. E.;
- Brusse, Esther;
- van der Ploeg, Ans T.;
- van den Hout, Johanna M. P.;
- Huidekoper, Hidde H.
Publication type:
Article
Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease.
Published in:
2022
By:
- van Kooten, Harmke A.;
- Ditters, Imke A. M.;
- Hoogeveen-Westerveld, Marianne;
- Jacobs, Edwin H.;
- van den Hout, Johanna M. P.;
- van Doorn, Pieter A.;
- Pijnappel, W. W. M. Pim;
- van der Ploeg, Ans T.;
- van der Beek, Nadine A. M. E.
Publication type:
Journal Article
Enzyme replacement therapy in late‐onset Pompe's disease: A three‐year follow‐up.
Published in:
Annals of Neurology, 2004, v. 55, n. 4, p. 495
By:
- Léon P. F. Winkel;
- Johanna M. P. Van den Hout;
- Joep H. J. Kamphoven;
- Janus A. M. Disseldorp;
- Maaike Remmerswaal;
- Willem F. M. Arts;
- M. Christa B. Loonen;
- Arnold G. Vulto;
- Pieter A. Van Doorn;
- Gerard De Jong;
- Wim Hop;
- G. Peter A. Smit;
- Stuart K. Shapira;
- Marijke A. Boer;
- Arnold J. J. Reuser;
- Ans T. Van der Ploeg;
- Otto P. van Diggelen
Publication type:
Article
Diffusion tensor imaging of the brain in Pompe disease.
Published in:
Journal of Neurology, 2023, v. 270, n. 3, p. 1662, doi. 10.1007/s00415-022-11506-z
By:
- van den Dorpel, Jan J. A.;
- Dremmen, Marjolein H. G.;
- van der Beek, Nadine A. M. E.;
- Rizopoulos, Dimitris;
- van Doorn, Pieter A.;
- van der Ploeg, Ans T.;
- Muetzel, Ryan L.;
- van den Hout, Johanna M. P.
Publication type:
Article
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 206, doi. 10.1002/jimd.12597
By:
- Hagemeijer, Marne C.;
- van den Bosch, Jeroen C.;
- Bongaerts, Michiel;
- Jacobs, Edwin H.;
- van den Hout, Johanna M. P.;
- Oussoren, Esmee;
- Ruijter, George J. G.
Publication type:
Article
Is the brain involved in patients with late‐onset Pompe disease?
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 493, doi. 10.1002/jimd.12469
By:
- van den Dorpel, Jan J. A.;
- van der Vlugt, Willemijn M. C.;
- Dremmen, Marjolein H. G.;
- Muetzel, Ryan;
- van den Berg, Esther;
- Hest, Roos;
- de Kriek, Joni;
- Brusse, Esther;
- van Doorn, Pieter A.;
- van der Ploeg, Ans T.;
- van den Hout, Johanna M. P.;
- van der Beek, Nadine A. M. E.
Publication type:
Article
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1247, doi. 10.1007/s10545-018-0212-1
By:
- Oussoren, Esmee;
- Mathijssen, Irene M. J.;
- Wagenmakers, Margreet;
- Verdijk, Rob M.;
- Bredero‐Boelhouwer, Hansje H.;
- van Veelen‐Vincent, Marie‐Lise C.;
- van der Meijden, Jan C.;
- van den Hout, Johanna M. P.;
- Ruijter, George J. G.;
- van der Ploeg, Ans T.;
- Langeveld, Mirjam
Publication type:
Article
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1247, doi. 10.1007/s10545-018-0212-1
By:
- Oussoren, Esmee;
- Mathijssen, Irene M. J.;
- Wagenmakers, Margreet;
- Verdijk, Rob M.;
- Bredero-Boelhouwer, Hansje H.;
- van Veelen-Vincent, Marie-Lise C.;
- van der Meijden, Jan C.;
- van den Hout, Johanna M. P.;
- Ruijter, George J. G.;
- van der Ploeg, Ans T.;
- Langeveld, Mirjam
Publication type:
Article
Start, switch and stop (triple‐S) criteria for enzyme replacement therapy of late‐onset Pompe disease: European Pompe Consortium recommendation update 2024.
Published in:
European Journal of Neurology, 2024, v. 31, n. 9, p. 1, doi. 10.1111/ene.16383
By:
- Schoser, Benedikt;
- van der Beek, Nadine A. M. E.;
- Broomfield, Alexander;
- Brusse, Esther;
- Diaz‐Manera, Jordi;
- Hahn, Andreas;
- Hundsberger, Thomas;
- Kornblum, Cornelia;
- Kruijshaar, Michelle;
- Laforet, Pascal;
- Mengel, Eugen;
- Mongini, Tiziana;
- Orlikowski, David;
- Parenti, Giancarlo;
- Pijnappel, W. W. M. Pim;
- Roberts, Mark;
- Scherer, Thomas;
- Toscano, Antonio;
- Vissing, John;
- van den Hout, Johanna M. P.
Publication type:
Article
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.
Published in:
International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 56, doi. 10.3390/ijns9040056
By:
- Veldman, Abigail;
- Kiewiet, M. B. Gea;
- Westra, Dineke;
- Bosch, Annet M.;
- Brands, Marion M. G.;
- de Coo, René I. F. M.;
- Derks, Terry G. J.;
- Fuchs, Sabine A.;
- van den Hout, Johanna. M. P.;
- Huidekoper, Hidde H.;
- Kluijtmans, Leo A. J.;
- Koop, Klaas;
- Lubout, Charlotte M. A.;
- Mulder, Margaretha F.;
- Panis, Bianca;
- Rubio-Gozalbo, M. Estela;
- de Sain-van der Velden, Monique G.;
- Schaefers, Jaqueline;
- Schreuder, Andrea B.;
- Visser, Gepke
Publication type:
Article
Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions.
Published in:
BioDrugs, 2023, v. 37, n. 5, p. 685, doi. 10.1007/s40259-023-00609-2
By:
- Ditters, Imke A. M.;
- van Kooten, Harmke A.;
- van der Beek, Nadine A. M. E.;
- Hardon, Jacqueline F.;
- Ismailova, Gamida;
- Brusse, Esther;
- Kruijshaar, Michelle E.;
- van der Ploeg, Ans T.;
- van den Hout, Johanna M. P.;
- Huidekoper, Hidde H.
Publication type:
Article

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